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Wednesday, December 19, 2007

Dysautonomia and Mitochondrial Disease

Will recently took me to Ohio to see a specialist, Dr.
Grubb. The trip went well, and we were even able to have some
fun. While in Ohio I had the opportunity to visit with a dear
dysautonomia friend, Melissa.
Later on in the week we were also able to visit my sister, Krista. The
visits were tiring, but very much worth it! Here is a picture of Melissa,
Will, and me. Unfortunately, I don't have any pictures from my visit with
Krista.

The visit with Dr. Grubb was a good one. He was
very kind, compassionate, and knowledgeable. It was nice to go to a
doctor who knows so mucha bout dysautonomia. As I was telling him about
my medical history it was so neat because he "got it." Plus, he
started to put pieces together that no doctor has before. He was able to
see the whole picture, and not just POTS plus a few other random
symptoms.

There isn't much more that can be done for me as far as
dysautonomia treatments go. Dr. Grubb said that there are only two
medications left for me to try. We are currently doing one med trial, but
as of today I've received no benefits from that med. When we are finished
with this medication trial, I will hopefully try the last med. It is an
injection that runs at least $12,000 a year, however, so I'm not sure if
my insurance will cover it. They have already denied me for 3
other medications that are much less expensive, so I'm expecting a denial
for the $1,000/month med as well. One of the most frustrating things
about dysautonomia is trying a medication sample from a doctor,
finding that it actually relieves a symptom, and then not being able to
continue taking it because of insurance not covering the medication.

Before going on with life as it is, there is one
more road we must go down for testing and possible
treatment. Based on my medical history, early onset, symptoms,
severity of symptoms, progression, and lack of response to treatment, Dr. Grubb
thinks that I have a mitochondrial disease. There are many different types
of mitochondrial diseases, and they are generally considered progressive.
There are no cures for them, and treatment usually just slows
progression. This area of medicine still has many unknowns. It is
even more confusing than dysautonomia, if that is possible! If you
would like to read a short article that gives an overview of Mitochondrial
Disease, here is one that is easy to understand: MitochondrialDisease.

In two months we will again be traveling to Ohio, this time
to see a specialist in the area of Mitochondrial Diseases, for evaluation,
blood work, and a possible muscle biopsy. Knowing for sure if I have
a Mitochondrial Disease may not help much in the the area of treatment,
but it would be nice just to know if I have it.

One really cool thing about my visit with Dr. Grubb was some
of the dysautonomia history that he shared with me. There are
actually medical papers as early as the 1800s that clearly describe POTS.
There is even a painting from the 1600s that appears to be of a woman with
POTS! If you'd like to see the painting, it is now on my Dysautonomia
page.

Regular Life Update:

Our son, William, has now turned 2 years old. We
had a simple, but fun, celebration here at home. William loved the
balloons, the cake and ice cream, and the fish that were on his cake. He carried the
fish everywhere for a week, and still likes to sleep with them
sometimes. William still plays with the balloons that he piled into the
bathtub, and he also now likes to watch the video of his birthday party.
Fun times. :)

William is learning new words and new tricks all the
time. The newest additions to his vocabulary are: nope, no way, chips,
Christmas tree, abc's, seat, food, Veggie Tales, fish, love you, and
mama-mia! His newest tricks are: turning on/off the lights, turning on
the gas fireplace with the flip of a switch, navigating around in my
wheelchair, and piano playing that actually sounds good!

My sister, Krista, came home from college for Christmas
break last week. We are all glad to have her home for the holidays.
William was so excited when she came home that he could not contain
himself. He was running about the house like crazy! He has settled
down now, though, and is showering Krista with hugs, snuggles, and an
occasional kiss.

At the end of this month Will and I will be celebrating our
5th wedding anniversary. We don't have any fancy plans, but perhaps Aunt
Krista will be willing to babysit William so that we can go out for
dinner. (Hint, hint, Krista! :) ) We thank the Lord for 5
wonderful years together, and pray for many more.